Orphanet Database · Orphadata CC-BY-4.0

Rare (orphan) diseases

The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.

7,547

Diseases

4 552

Genes

8 700

Phenotypes

140

Regions

Diagnostic assistant Drug search Clinical trials Statistics

All (7,547)Bio anomaly Category Clinical group Clinical subtype Clinical syndrome Disease Etiological subtype Histopathological subtype Malformation Morphological anomaly Clinical situation

Autosomal recessive spastic ataxia with leukoencephalopathy

ORPHA:314603Disease

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

ORPHA:254343Disease

Autosomal recessive

Childhood

Autosomal recessive spastic paraplegia type 11

ORPHA:2822Disease

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Autosomal recessive spastic paraplegia type 14

ORPHA:100995Disease

Autosomal recessive

Adult

Autosomal recessive spastic paraplegia type 20

ORPHA:101000Disease

Autosomal recessive

Infancy

Autosomal recessive spastic paraplegia type 21

ORPHA:101001Disease

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive spastic paraplegia type 23

ORPHA:101003Disease

Autosomal recessive

Childhood

Autosomal recessive spastic paraplegia type 24

ORPHA:101004Disease

Autosomal recessive

Infancy

Autosomal recessive spastic paraplegia type 25

ORPHA:101005Disease

Autosomal recessive

Adult

Autosomal recessive spastic paraplegia type 26

ORPHA:101006Disease

Autosomal recessive

Adolescent, Childhood

Autosomal recessive spastic paraplegia type 27

ORPHA:101007Disease

Autosomal recessive

Adolescent, Adult

Autosomal recessive spastic paraplegia type 28

ORPHA:101008Disease

Autosomal recessive

Adolescent, Childhood, Infancy

Autosomal recessive spastic paraplegia type 32

ORPHA:171622Disease

Autosomal recessive

Childhood

Autosomal recessive spastic paraplegia type 35

ORPHA:171629Disease

Autosomal recessive

Adolescent, Childhood

Autosomal recessive spastic paraplegia type 39

ORPHA:139480Disease

Autosomal recessive

Childhood

Autosomal recessive spastic paraplegia type 43

ORPHA:320370Disease

Autosomal recessive

Adolescent, Childhood

Autosomal recessive spastic paraplegia type 44

ORPHA:320401Disease

Autosomal recessive

Adolescent, Adult

Autosomal recessive spastic paraplegia type 45

ORPHA:320396Disease

Autosomal recessive

Infancy

Autosomal recessive spastic paraplegia type 46

ORPHA:320391Disease

Autosomal recessive

Childhood, Infancy

Autosomal recessive spastic paraplegia type 48

ORPHA:306511Disease

Autosomal recessive

Adult

Autosomal recessive spastic paraplegia type 53

ORPHA:319199Disease

Autosomal recessive

Infancy

Autosomal recessive spastic paraplegia type 54

ORPHA:320380Disease

Autosomal recessive

Childhood, Infancy

Autosomal recessive spastic paraplegia type 55

ORPHA:320375Disease

Autosomal recessive

Childhood

Autosomal recessive spastic paraplegia type 56

ORPHA:320411Disease

Autosomal recessive

Childhood, Infancy, Neonatal

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Rare diseases

Autosomal recessive spastic ataxia with leukoencephalopathy

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 14

Autosomal recessive spastic paraplegia type 20

Autosomal recessive spastic paraplegia type 21

Autosomal recessive spastic paraplegia type 23

Autosomal recessive spastic paraplegia type 24

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia type 26

Autosomal recessive spastic paraplegia type 27

Autosomal recessive spastic paraplegia type 28

Autosomal recessive spastic paraplegia type 32

Autosomal recessive spastic paraplegia type 35

Autosomal recessive spastic paraplegia type 39

Autosomal recessive spastic paraplegia type 43

Autosomal recessive spastic paraplegia type 44

Autosomal recessive spastic paraplegia type 45

Autosomal recessive spastic paraplegia type 46

Autosomal recessive spastic paraplegia type 48

Autosomal recessive spastic paraplegia type 53

Autosomal recessive spastic paraplegia type 54

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 56

Rare (orphan) diseases

Autosomal recessive spastic ataxia with leukoencephalopathy

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 14

Autosomal recessive spastic paraplegia type 20

Autosomal recessive spastic paraplegia type 21

Autosomal recessive spastic paraplegia type 23

Autosomal recessive spastic paraplegia type 24

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia type 26

Autosomal recessive spastic paraplegia type 27

Autosomal recessive spastic paraplegia type 28

Autosomal recessive spastic paraplegia type 32

Autosomal recessive spastic paraplegia type 35

Autosomal recessive spastic paraplegia type 39

Autosomal recessive spastic paraplegia type 43

Autosomal recessive spastic paraplegia type 44

Autosomal recessive spastic paraplegia type 45

Autosomal recessive spastic paraplegia type 46

Autosomal recessive spastic paraplegia type 48

Autosomal recessive spastic paraplegia type 53

Autosomal recessive spastic paraplegia type 54

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 56